Canonical Allele Identifier: CA342827321

Gene: LMNA

Linked Data

• MyVariant Identifiers: chr1:g.156108429G>C (hg19) ; chr1:g.156138638G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156138638G>C , CM000663.2:g.156138638G>C	GRCh38
NC_000001.10:g.156108429G>C , CM000663.1:g.156108429G>C	GRCh37
NC_000001.9:g.154375053G>C	NCBI36
NG_008692.2:g.61066G>C , LRG_254:g.61066G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1291G>C	ENSP00000426535.3:p.Ala431Pro
ENST00000682650.1:c.1759G>C	ENSP00000506904.1:p.Ala587Pro
ENST00000683032.1:c.1849G>C	ENSP00000506771.1:p.Ala617Pro
ENST00000683773.1:n.163+31G>C
ENST00000684195.1:c.*941G>C	ENSP00000508220.1:n.*941G>C
ENST00000361308.9:c.1849G>C	ENSP00000355292.6:p.Ala617Pro
ENST00000368300.9:c.1849G>C MANE Select	ENSP00000357283.4:p.Ala617Pro
ENST00000674518.1:c.*1199G>C	ENSP00000502261.1:n.*1199G>C
ENST00000674600.1:c.*1648G>C	ENSP00000501666.1:n.*1648G>C
ENST00000675455.1:c.*1649G>C	ENSP00000501795.1:n.*1649G>C
ENST00000675667.1:c.1849G>C	ENSP00000501803.1:p.Ala617Pro
ENST00000675874.1:c.*1320G>C	ENSP00000501851.1:n.*1320G>C
ENST00000675881.1:c.*860G>C	ENSP00000501670.1:n.*860G>C
ENST00000675939.1:c.1849G>C	ENSP00000502256.1:p.Ala617Pro
ENST00000675989.1:n.3452G>C
ENST00000676208.1:c.*952G>C	ENSP00000502468.1:n.*952G>C
ENST00000676385.2:c.1759G>C	ENSP00000502091.1:p.Ala587Pro
ENST00000676434.1:c.*1604G>C	ENSP00000501648.1:n.*1604G>C
ENST00000347559.6:c.1759G>C	ENSP00000292304.3:p.Ala587Pro
ENST00000368299.7:c.1818+31G>C	ENSP00000357282.3:n.1818+31G>C
ENST00000368300.8:c.1849G>C	ENSP00000357283.4:p.Ala617Pro
ENST00000448611.6:c.1513G>C	ENSP00000395597.2:p.Ala505Pro
ENST00000473598.6:c.1552G>C	ENSP00000421821.1:p.Ala518Pro
ENST00000496738.5:n.2062G>C
ENST00000506981.1:n.433G>C
ENST00000508500.1:c.637G>C	ENSP00000424977.1:p.Ala213Pro
NM_001257374.2:c.1513G>C	NP_001244303.1:p.Ala505Pro
NM_001282626.1:c.1818+31G>C	NP_001269555.1:n.1818+31G>C
NM_170707.3:c.1849G>C	NP_733821.1:p.Ala617Pro
NM_170708.3:c.1759G>C	NP_733822.1:p.Ala587Pro
XM_011509533.1:c.1513G>C	XP_011507835.1:p.Ala505Pro
XM_011509534.1:c.1225G>C	XP_011507836.1:p.Ala409Pro
XR_921781.1:n.2138G>C
XM_011509534.2:c.1225G>C	XP_011507836.1:p.Ala409Pro
XR_921781.2:n.2136G>C
NM_170707.4:c.1849G>C MANE Select	NP_733821.1:p.Ala617Pro
NM_001257374.3:c.1513G>C	NP_001244303.1:p.Ala505Pro
NM_001282626.2:c.1818+31G>C	NP_001269555.1:n.1818+31G>C
NM_170708.4:c.1759G>C	NP_733822.1:p.Ala587Pro